esv2730962
- Organism: Homo sapiens
- Study:estd201 (Wong et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,498
- Publication(s):Wong et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 386 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 386 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv2730962 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 2,580,033 | 2,636,530 |
| esv2730962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 2,622,225 | 2,678,722 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| essv6834575 | deletion | SSM082 | Sequencing | Paired-end mapping | 3,227 |
| essv6677459 | deletion | SSM032 | Sequencing | Paired-end mapping | 3,551 |
| essv6952845 | deletion | SSM025 | Sequencing | Paired-end mapping | 3,743 |
| essv6952846 | deletion | SSM025 | Sequencing | Paired-end mapping | 3,743 |
| essv6895832 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
| essv6895843 | deletion | SSM012 | Sequencing | Paired-end mapping | 3,093 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv6834575 | Remapped | Perfect | NC_000010.11:g.(25 80033_?)_(?_263649 8)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,033 | 2,636,498 |
| essv6677459 | Remapped | Perfect | NC_000010.11:g.(25 80071_?)_(?_263653 0)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,071 | 2,636,530 |
| essv6952845 | Remapped | Perfect | NC_000010.11:g.(25 80104_?)_(?_258185 5)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,104 | 2,581,855 |
| essv6952846 | Remapped | Perfect | NC_000010.11:g.(25 80104_?)_(?_263653 2)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,104 | 2,636,532 |
| essv6895832 | Remapped | Perfect | NC_000010.11:g.(25 80109_?)_(?_258186 2)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,109 | 2,581,862 |
| essv6895843 | Remapped | Perfect | NC_000010.11:g.(25 80109_?)_(?_263652 3)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,580,109 | 2,636,523 |
| essv6834575 | Submitted genomic | NC_000010.10:g.(26 22225_?)_(?_267869 0)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,225 | 2,678,690 | ||
| essv6677459 | Submitted genomic | NC_000010.10:g.(26 22263_?)_(?_267872 2)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,263 | 2,678,722 | ||
| essv6952845 | Submitted genomic | NC_000010.10:g.(26 22296_?)_(?_262404 7)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,296 | 2,624,047 | ||
| essv6952846 | Submitted genomic | NC_000010.10:g.(26 22296_?)_(?_267872 4)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,296 | 2,678,724 | ||
| essv6895832 | Submitted genomic | NC_000010.10:g.(26 22301_?)_(?_262405 4)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,301 | 2,624,054 | ||
| essv6895843 | Submitted genomic | NC_000010.10:g.(26 22301_?)_(?_267871 5)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,622,301 | 2,678,715 |